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This study examines LDL-c levels in patients with null and defective alleles before and after lipid-lowering therapy. Results from Sjouke et al. in Eur. Heart J. 2014.
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LDL-c levels in homozygous autosomal dominant hypercholesterolaemia patients 25 2 null alleles 20 1 null allele, 1 defective allele 2 defective alleles 15 10 LDL-c levels (mmol/L) 5 0 Before lipid-lowering therapy After lipid-lowering therapy Sjouke et al., Eur Heart J 2014